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1,738 Possible Causes for Cerebellar Hypoplasia, Mental Retardation

  • Dandy-Walker Syndrome

    A young boy presented with mental retardation and seizures with extensive hairy naevi.[] hypoplasia, hydrocephalus, and posterior fossa cyst formation.[] Abstract The Dandy-Walker syndrome is said to be associated with a high incidence of mental retardation and motor dysfunction leading some to suggest termination of the affected[]

  • Dysequilibrium Syndrome

    Dysequilibrium syndrome is a genetically heterogeneous condition that combines autosomal recessive, nonprogressive cerebellar ataxia with mental retardation.[] From Wikipedia, the free encyclopedia Jump to navigation Jump to search VLDLR-associated cerebellar hypoplasia Other names Dysequilibrium syndrome, DES ; Nonprogressive cerebellar[] Retarded motor and mental development became apparent during the first year of life. The age of unsupported walking varied from 5-21 years.[]

  • Lissencephaly

    We generated three types of mice with knocked-in ARX mutations associated with X-linked lissencephaly (P353R) and mental retardation [P353L and 333ins(GCG)7].[] A newborn with a rare type of lissencephaly is reported, characterized by extreme cerebral and cerebellar hypoplasia.[] A sibship with a neuronal migration defect, cerebellar hypoplasia and congenital lymphedema. Neuropediatrics 24, 43–46 ( 1993). 15 DeSilva, U. et al.[]

  • Aprosencephaly and Cerebellar Dysgenesis

    Mental Retardation 11 (Mrx11, Xlmr11) X-Linked Mental Retardation 12 (Mrx12, Xlmr12) X-Linked Mental Retardation 13 (Mrx13, Xlmr13) X-Linked Mental Retardation 14 (Mrx14,[] This article is about human cerebellar hypoplasia. For cerebellar hypoplasia in other animals, see cerebellar hypoplasia (non-human).[] Retardation, Autosomal Recessive 13 Mental Retardation, Autosomal Recessive 5 Mental Retardation, X-Linked 99, Syndromic, Female-Restricted Mental Retardation, X-Linked,[]

  • Hoyeraal-Hreidarsson Syndrome

    Hoyeraal-Hreidarsson syndrome (HHS) includes intrauterine growth retardation, microcephaly, mental retardation, cerebellar malformation, and pancytopenia.[] We report on a boy with prenatal growth retardation, progressive pancytopenia, cerebellar hypoplasia, microcephaly and developmental delay.[] […] hypoplasia, mental retardation, progressive combined immune deficiency and aplastic anaemia.[]

  • Congenital Merosin-Positive Muscular Dystrophy

    Here we report three cases in two families with merosin-positive congenital muscular dystrophy, mild mental retardation, bilateral cataracts and normal cranial magnetic resonance[] The second child, a 3-year-old ambulant girl with subtle learning problems, had mild cerebellar hypoplasia and a large subarachnoid space when scanned at 16 months.[] He was mentally retarded and spoke single words only.[]

  • Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome

    Retrusion, and Mental Retardation Sensenbrenner syndrome Shprintzen Golberg Craniosynostosis Skeletal Dysplasia, San Diego Type Spondyloepiphyseal Dysplasia with Coronal[] Showing of 14 80%-99% of people have these symptoms Cerebellar hypoplasia Small cerebellum Underdeveloped cerebellum [ more ] 0001321 Dandy-Walker malformation 0001305 Dolichocephaly[] Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation syndromic X-linked intellectual disability 5 Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and[]

  • Congenital Non-Progressive Ataxia

    Although previous studies of Gillespie syndrome have systematically reported a generalized delay of cognitive development (mental retardation or oligophrenia), psychometric[] Clinical evaluation showed bilateral superior coloboma, foveal hypoplasia, and inferior cerebellar hypoplasia.[] In many cases, neuroimaging studies (CT scan, MRI) show cerebellar hypoplasia or atrophy, especially of the vermis, with occasional white matter changes, and diffuse atrophy[]

  • Microcephalic Primordial Dwarfism due to ZNF335 Deficiency

    Retardation , Autosomal Dominant 20 Mental Retardation , Autosomal Dominant 35 Mental Retardation , Autosomal Dominant 36 Mental Retardation , X-Linked 102 Mental Retardation[] hypoplasia Neuronal loss in central nervous system Hypoplasia of the brainstem Congenital contracture Hypoplasia of the pons Infantile encephalopathy Loss of Purkinje cells[] retardation 105 300984 300975 X-linked recessive USP9X Xp11.4 Mental retardation, X-linked 99 300919 300072 X-linked recessive USP9X Xp11.4 Mental retardation, X-linked 99[]

  • Arnold Chiari Malformation

    At risk for vision problems, mental retardation, microcephaly, and seizure disorder.[] Type IV is a form a cerebellar hypoplasia.[] […] structures Hydrocephalus in 50% of cases due to obstruction Chiari IV (very rare) Primary cerebellar hypoplasia or agenesis Epidemiology Prevalence True incidence is estimated[]

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